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SLC35C1

Synonyms
CDG2C, FUCT1
External resources
Summary
This gene encodes a GDP-fucose transporter that is found in the Golgi apparatus. Mutations in this gene result in congenital disorder of glycosylation type IIc. Multiple transcript variants encoding different isoforms have been found for this gene.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
642
Likely benign
51
Benign
0

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC35C1 gene.

Phenotype class
Patients in 3billion (%)

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